B6.A2G-Clcn1^adr/Cnrm

Status	Available to order
EMMA ID	EM:00592
International strain name	B6.A2G-Clcn1^adr/Cnrm
Alternative name	C57BL6-adr (Clc 1)
Strain type	Spontaneous
Allele/Transgene symbol	Clcn1^adr
Gene/Transgene symbol	Clcn1

Information from provider

Provider	Harald, Dr. Jockusch
Provider affiliation	Bielefeld University
Genetic information	Retroposon insertion into Clcn1 gene (Steinmeyer et al.; 1991, Nature 354, 304-308).
Phenotypic information	Hyperexcitability of skeletal muscle; myotonia. Causes a host of secondary effects: fiber type shift, glycolytic to oxidative; drastically reduced parvalbumin content of skeletal muscle; increased density of satellite cells; gross morphological changes of muscles and bones. The adr mutation in the Clc1 gene of the mouse has led to the discovery of the mechanism of myotonia (cf. Mehrke, G., Brinkmeier, H., and Jockusch, H. Muscle Nerve 11, 440-6, 1988 and Steinmeyer, K., et al. Nature 354, 304-8., 1991) and finally to the identification of homologous mutations in human Becker and Thomsen myotonias.
Breeding history	Since 2002 continuous backcrossing from A2G to C57BL/6, approximately 8 generations.
References	Inactivation of muscle chloride channel by transposon insertion in myotonic mice.;Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Gründer S, Jentsch T J, ;1991;Nature;354;304-8; 1659665 Myotonia and neuromuscular transmission in the mouse.;Költgen D, Brinkmeier H, Jockusch H, ;1991;Muscle & nerve;14;775-80; 1653899

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

myotonia congenita / DOID:2106

Orphanet associated rare diseases, based on orthologous gene matching

Thomsen and Becker disease / Orphanet_614

IMPC phenotypes (gene matching)

decreased monocyte cell number / IMPC
decreased locomotor activity / IMPC
decreased circulating glucose level / IMPC
increased eosinophil cell number / IMPC
decreased body length / IMPC
tremors / IMPC
decreased startle reflex / IMPC
increased circulating bilirubin level / IMPC
decreased prepulse inhibition / IMPC
decreased circulating HDL cholesterol level / IMPC
abnormal eye morphology / IMPC
decreased lymphocyte cell number / IMPC
decreased grip strength / IMPC
decreased vertical activity / IMPC
abnormal cholesterol homeostasis / IMPC
female infertility / IMPC
decreased thigmotaxis / IMPC
decreased exploration in new environment / IMPC
microphthalmia / IMPC
abnormal gait / IMPC
male infertility / IMPC
increased circulating serum albumin level / IMPC
abnormal auditory brainstem response / IMPC
decreased mean platelet volume / IMPC
abnormal behavior / IMPC
increased circulating aspartate transaminase level / IMPC
decreased heart weight / IMPC

MGI phenotypes (allele matching)

abnormal skeletal muscle morphology / MGI
impaired righting response / MGI
postnatal growth retardation / MGI
reduced female fertility / MGI
male infertility / MGI
premature death / MGI
abnormal muscle physiology / MGI
impaired skeletal muscle contractility / MGI
impaired muscle relaxation / MGI
abnormal muscle electrophysiology / MGI
abnormal limb posture / MGI
muscle twitch / MGI

MGI phenotypes (gene matching)

kyphosis / MGI
sparse hair / MGI
muscle spasm / MGI
hindlimb paralysis / MGI
forelimb paralysis / MGI
abnormal skeletal muscle morphology / MGI
decreased body weight / MGI
decreased body size / MGI
abnormal stationary movement / MGI
ataxia / MGI
abnormal gait / MGI
limb grasping / MGI
impaired righting response / MGI
impaired limb coordination / MGI
postnatal growth retardation / MGI
reduced fertility / MGI
reduced female fertility / MGI
infertility / MGI
male infertility / MGI
abnormal sensory capabilities/reflexes/nociception / MGI
premature death / MGI
abnormal muscle physiology / MGI
impaired skeletal muscle contractility / MGI
altered righting response / MGI
no phenotypic analysis / MGI
impaired muscle relaxation / MGI
abnormal voluntary movement / MGI
muscle hypertonia / MGI
abnormal muscle electrophysiology / MGI
abnormal limb posture / MGI
increased skeletal muscle mass / MGI
muscle phenotype / MGI
hearing/vestibular/ear phenotype / MGI
vision/eye phenotype / MGI
axon degeneration / MGI
decreased physiological sensitivity to xenobiotic / MGI
muscle twitch / MGI
paraparesis / MGI

Literature references

Inactivation of muscle chloride channel by transposon insertion in myotonic mice.;Steinmeyer K, Klocke R, Ortland C, Gronemeier M, Jockusch H, Gründer S, Jentsch T J, ;1991;Nature;354;304-8; 1659665
Myotonia and neuromuscular transmission in the mouse.;Költgen D, Brinkmeier H, Jockusch H, ;1991;Muscle & nerve;14;775-80; 1653899

Information on how we integrate external resources can be found here

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Genotyping protocol

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6.A2G-Clcn1adr/Cnrm